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PubMed · 12144083

Beals-Hecht syndrome.

Jennifer L Jones·Joshua E Lane·James J Logan·Maria E Vanegas
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Abstract

Beals-Hecht syndrome, also known as congenital contractural arachnodactyly, is caused by a defect in fibrillin as in Marfan syndrome. This syndrome is characterized by a multitude of clinical findings including arachnodactyly, narrow body habitus, scoliosis, congenital contractures, and external ear deformities. Restrictive lung disease may be associated with the severe scoliosis and thoracic cage abnormalities in this syndrome. We describe a child with Beals-Hecht syndrome and review the literature.

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ChildConnective Tissue DiseasesContractureEar, ExternalFibrillinsGenes, DominantHumansLung DiseasesMaleMicrofilament ProteinsScoliosisSomatotypesSyndromeCase ReportsJournal ArticleReview

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Jennifer L Jones, Joshua E Lane, James J Logan, Maria E Vanegas. 2002. Beals-Hecht syndrome.. https://pubmed.ncbi.nlm.nih.gov/12144083/

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